RESUMO
BACKGROUND: Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by the triad of granulomatous cheilitis, fissured tongue, and facial paralysis. Publications concerning large series are rare in the literature. OBJECTIVES: To describe the clinical and histopathological characteristics of patients with complete and oligosymptomatic forms of MRS. METHODS: A retrospective records review was performed for the diagnoses of Melkersson-Rosenthal syndrome, granulomatous cheilitis, and orofacial granulomatosis at oral Diseases Clinic of the Department of Dermatology, University of São Paulo, Brazil (2003, 2017). RESULTS: A total of 51 patients were included, mean age at presentation 35.69 years. Four patients were younger than 18 years. The complete triad of was observed in 10 patients. The rare findings of granulomatous blepharitis, gingivitis and palatitis are presented. Comorbidities included Crohn's disease (5 patients), migraine headaches (1 patient) and convulsions (2 patients). Granulomatous inflammatory infiltrate was detected in 31 biopsies. Medical therapies included included oral and intralesional steroids, thalidomide, dapsone, azathioprine, tetracycline, methotrexate, and surgery, with variable responses. CONCLUSIONS: Our report meant to draw attention to the clinical spectrum of this rare disorder, mainly to oligosymptomatic forms and rarer presentations.
Assuntos
Granulomatose Orofacial/diagnóstico , Síndrome de Melkersson-Rosenthal/diagnóstico , Adolescente , Adulto , Brasil , Comorbidade , Feminino , Granulomatose Orofacial/tratamento farmacológico , Humanos , Masculino , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Estudos RetrospectivosRESUMO
La queilitis granulomatosa es una entidad granulomatosa no infecciosa, poco frecuente, que se presenta como un aumento de volumen persistente de la región orofacial. El estudio histológico, junto con la exclusión de otras patologías granulomatosas son necesarios para su diagnóstico, especialmente cuando no se presenta con la triada clásica del Síndrome de Merkelsson Rosenthal. Presentamos dos casos de queilitis granulomatosa y una revisión de la literatura disponible.
Granulomatous cheilitis is a rare, non-infectious, granulomatous entity that presents as a persistent swelling of the orofacial region. Histological study together with the exclusion of other granulomatous diseases are necessary for the diagnosis, especially when the presentation is not the classic triad of Merkelsson Rosenthal Syndrome. We present two cases of granulomatous cheilitis and a review of the available literature.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Granulomatose Orofacial , Síndrome de Melkersson-Rosenthal/diagnóstico , Diagnóstico Diferencial , Hipersensibilidade Alimentar/etiologia , Angioedema/complicações , Síndrome de Melkersson-Rosenthal/terapiaRESUMO
Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease that manifests by the triad of recurrent orofacial edema (frequently as cheilitis granulomatosa), relapsing facial paralysis and plicated tongue. The cause of MRS remains unknown, but genetic predisposal and a relationship with inflammatory bowel disease are suspected. The objective of this research was to compare the frequency of class I and II HLA alleles in patients with a confirmed diagnosis of MRS with those of a healthy control group. We conduct a case-control study and typed of HLA A, B, C, DR, and DQ using molecular techniques. The study included 36 patients with MRS and 297 patients in the control group. There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277]), HLA DRB1*13 (not statistically significant) and HLA DQB1*03 (p = 0,0177; OR: 1,829 [1,122-2,978]) and low levels of HLA A*01 (p = 0.0046; OR: 0,097 [0,009-0,538]), HLA DRB1*04 (p = 0.0274; OR: 0,228 [0,053-0,844]), HLA DRB1*07 (p = 0,0091; OR: 0,183 [0,043-0,670]) and HLA DQB1*02 (p = 0.0051; OR: 0,312 [0,143-0,721]) in MRS patients compared with the control group. Crohn disease (CD) patients had disparate genetic profiles versus those with MRS. This single-institution study had a small cohort, because this disease is rare. Conclusions: There is a genetic predisposition toward MRS, involving associated and protective genes.
Assuntos
Alelos , Cadeias HLA-DRB1/genética , Complexo Principal de Histocompatibilidade/genética , Síndrome de Melkersson-Rosenthal/genética , Adolescente , Adulto , Idoso , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Doença de Crohn/genética , Feminino , Genes MHC Classe I/genética , Genes MHC da Classe II/genética , Predisposição Genética para Doença , Granulomatose Orofacial/genética , Cadeias beta de HLA-DQ , Humanos , Lactente , Doenças Inflamatórias Intestinais , Masculino , Pessoa de Meia-Idade , Pacientes , Adulto JovemRESUMO
Orofacial granulomatosis is a nonspecific term that contains a wide variety of granulomatous entities, which share a clinical and histopathological presentation. It manifests as persistent or recurrent orofacial swelling, amongst other findings. Idiopathic orofacial granulomatosis, characterized by an absence of systemic granulomatous disease, is a diagnosis of exclusion. The main differential diagnosis is Crohn's disease. Its pathogenesis is unknown, however, it seems to be immune-mediated. Patch-test sensitivity to multiple allergens is well documented. Currently, therapeutic options consider restrictive diets, topical, intralesional, and systemic agents. First-line therapy is currently a matter of debate. We present a review of the value of diet therapy in this syndrome, along with two illustrative cases.
Assuntos
Granulomatose Orofacial/dietoterapia , Adolescente , Adulto , Granulomatose Orofacial/diagnóstico , Granulomatose Orofacial/patologia , Humanos , Imunoglobulina E/sangue , Masculino , Mucosa Bucal/patologia , Testes Cutâneos , Adulto JovemRESUMO
Abstract: Orofacial granulomatosis is a nonspecific term that contains a wide variety of granulomatous entities, which share a clinical and histopathological presentation. It manifests as persistent or recurrent orofacial swelling, amongst other findings. Idiopathic orofacial granulomatosis, characterized by an absence of systemic granulomatous disease, is a diagnosis of exclusion. The main differential diagnosis is Crohn's disease. Its pathogenesis is unknown, however, it seems to be immune-mediated. Patch-test sensitivity to multiple allergens is well documented. Currently, therapeutic options consider restrictive diets, topical, intralesional, and systemic agents. First-line therapy is currently a matter of debate. We present a review of the value of diet therapy in this syndrome, along with two illustrative cases.
Assuntos
Humanos , Masculino , Adolescente , Adulto , Adulto Jovem , Granulomatose Orofacial/dietoterapia , Imunoglobulina E/sangue , Testes Cutâneos , Granulomatose Orofacial/diagnóstico , Granulomatose Orofacial/patologia , Mucosa Bucal/patologiaRESUMO
La leishmaniasis es una zoonosis parasitaria causada por protozoos. Puede afectar la piel y las mucosas o presentarse como una enfermedad visceral. La variedad mucocutánea conduce a la destrucción parcial o completa de las membranas mucosas de la nariz, las fauces y la faringe. Aproximadamente un 90% de los casos con afectación mucocutánea se producen en Brasil, Bolivia y Perú. En nuestro país afecta en forma endémica a las provincias del norte desde principios del siglo XX. Se relata el caso de un paciente de 53 años con odinodisfagia de aproximadamente 6 meses de evolución, asociado a formaciones granulomatosas medio- faciales, en el que se diagnosticó leishmaniasis cutaneomucosa mediante el rescate de amastigotes en muestras tomadas de lesiones de paladar blando para estudio anatomopatológico con tinción de Giemsa. Se realizó tratamiento con meglumina antimoniato con buena evolución clínica a partir de los quince días de instaurado el mismo.
Leishmaniasis is a parasitic zoonosis caused by protozoa. It can affect skin, mucous membranes or presented as visceral disease. Mucocutaneous variety leads to partial or complete destruction of the mucous membranes of the nose, mouth and pharynx. Approximately, 90% of cases with mucocutaneous involvement occurs in Brazil, Bolivia and Peru. In our country it affects endemic to the northern provinces since the beginning of the century. The case of a 53-year-old patient with odinodisphagia of approximately 6 months of evolution, associated with mid-facial granulomatous formations in which cutaneomucous leishmaniasis was diagnosed by rescue of amastigotes in samples taken from lesions of soft palate for anatomopathological study with Staining of Giemsa. Treatment with meglumina antimonia was carried out with good clinical evolution from the fifteen days of the same establishment.
A leishmaniose é uma zoonose parasitária causada por protozoários. Ele pode afectar a pele e membranas mucosas ou presente como doença visceral. variedade mucocutânea conduz à destruição parcial ou completa das membranas mucosas do nariz, boca e faringe. Aproximadamente 90% dos casos com envolvimento mucocutânea ocorrem no Brasil, Bolívia e Peru. Em nosso país que afeta endêmica para as províncias do norte, desde o início do século XX. O caso de um odinodisfagia 53 anos, aproximadamente, 6 meses evolução associada com formações granulomatosas mediofaciais em que a leishmaniose mucocutânea foi diagnosticada por resgatar amastigotas em amostras tomadas a partir de lesões do palato mole para estudo histopatológico contou Giemsa. O tratamento foi realizado com antimoniato de meglumina com boa evolução clínica a partir de quinze dias introduzidas ele.
Assuntos
Masculino , Humanos , Pessoa de Meia-Idade , Leishmaniose Mucocutânea/diagnóstico , Leishmaniose Mucocutânea/tratamento farmacológico , Antimônio/uso terapêutico , Granulomatose Orofacial/diagnóstico , Granulomatose Orofacial/terapia , Meglumina/uso terapêuticoRESUMO
Introduction Foreign body in the oral cavity may be asymptomatic for long time and only sometimes it can lead to a typical granulomatous foreign body reaction. Some patients may complain of oral pain and present signs of inflammation with purulent discharge. A granuloma is a distinct, compact microscopic structure composed of epithelioid-shaped macrophages typically surrounded by a rim of lymphocytes and filled with fibroblasts and collagen. Nowadays, the increase of cosmetic invasive procedures such as injection of prosthetic materials in lips and cheeks may lead to unusual forms of inflammatory granulomas. Objectives Describe an unusual presentation of a foreign body reaction in the buccal mucosa due to previous injection of cosmetic agent. Resumed Report A 74-year-old woman was referred to the Department of Otorhinolaryngology, Head and Neck Surgery to investigate the presence of multiple painless, bilateral nodules in the buccal mucosa, with progressive growth observed during the previous 2months. The histologic results showed a foreign body inflammatory reaction. Conclusion Oral granulomatosis lesions represent a challenging diagnosis for clinicians and a biopsy may be necessary. Patients may feel ashamed to report previous aesthetic procedures, and the clinicians must have a proactive approach.(AU)
Assuntos
Humanos , Feminino , Idoso , Reação a Corpo Estranho , Granulomatose Orofacial , Diagnóstico Diferencial , Complicações Pós-Operatórias , Cirurgia PlásticaRESUMO
La Granulomatosis con Poliangitis (GPA) se caracteriza por una vasculitis granulomatosa de vías aéreas y glomerulonefritis. Han surgido múltiples avances en su diagnóstico y tratamiento, sin embargo su etiología permanece sin aclarar. Objetivos: Esta revisión guía a los otorrinolaringólogos a las manifestaciones clínicas principalmente las que se ubican en la región de cabeza y cuello, formas de diagnóstico y bases de tratamiento, las cuales deben realizarse de forma precoz para mejorar el pronóstico, evitar la progresión y disminuir las complicaciones. Metodología: Revisión de la literatura a través de las bases de datos Scielo, Science Direct y Pubmed, entre los años 1993 y 2014. Se incluyeron revisiones, artículos, reportes de casos clínicos, tratados de Otorrinolaringología. Resultados: Las alteraciones más frecuentemente identificadas en la GPA son: obstrucción nasal, costras nasales, rinorrea, otalgia, tinnitus, otitis media de difícil manejo, disfonía y disnea. Conclusiones: Las manifestaciones de la Granulomatosis con Poliangitis son múltiples y frecuentes en la región de la cabeza y cuello, su sospecha como diagnóstico diferencial en pacientes con presentaciones poco comunes y de difícil manejo o evolución tórpida siempre debe estar presente...
Granulomatosis with polyangiitis (GPA), also known as Wegeners granulomatosis, is characterized by granulomatous vasculitis of the respiratory tract and glomerulonephritis. There have been many advances directed towards its diagnosis and treatment, even though its etiology remains unclear. Objectives: This review summarizes the clinical manifestations of the disease, focused on the ones located in the head and neck region. GPA´s diagnosis and treatment, which must be done as early as possible in order to improve the prognosis. Methods: Review of the literature by searching SciELO, PubMed and ScienceDirect databases between 1993 and 2014. Reviews, original research articles, case reports and otolaryngology treaties were included. Results: GPAs frequent alterations are: nasal scabs and obstruction, rhinorrhea, earache, tinnitus, otitis media unwieldy, dysphonia and dyspnea. Conclusions: GPAs clinical manifestations are usually multiple and very common in the head and neck. GPA has to be kept in mind as differential diagnosis in patients with unusual presentations and those who are difficult to manage...
Assuntos
Humanos , Granulomatose Orofacial , Manuseio das Vias Aéreas , Nasofaringe , Otolaringologia , SaúdeRESUMO
OBJECTIVE: This study evaluated oral mucosal lesions in liver-transplanted children. METHODS: A retrospective study was performed on pediatric patients who underwent liver transplantation between 2002 and 2009, at A.C. Camargo Hospital, Sao Paulo-SP. Alterations, such as polypoid lesions over the dorsum of the tongue, lip swelling, angular cheilitis, fissures of the lips, mucosal tags, cobblestone appearance, and fissures of the tongue, were considered as orofacial granulomatosis (OFG)-like lesions. All clinical data were collected from medical records. Descriptive analyses and logistic regression were used to characterize and identify OFG-like lesion predictors. RESULTS: Of the 265 transplanted children, 56.6% were female, and 64.1% had biliary atresia. Fourteen patients died as a consequence of the transplantation surgery and were therefore excluded from the analysis related to oral lesions. Hence, among 251 patients, 64 showed OFG-like lesions. The lesions occurred around 26 months after transplantation, and the only therapy that all the patients were receiving in common was tacrolimus. Furthermore, patients aged 12 months old or less at transplantation presented higher risk to present oral lesions. CONCLUSIONS: This study described specific oral mucosal lesions in liver-transplanted children. Such lesions have recently been described as a novel entity. Although young age at transplantation has been associated to its development, the etiology of this condition is uncertain.
Assuntos
Granulomatose Orofacial , Transplante de Fígado , Complicações Pós-Operatórias , Adolescente , Criança , Pré-Escolar , Feminino , Granulomatose Orofacial/diagnóstico , Granulomatose Orofacial/epidemiologia , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Estudos RetrospectivosRESUMO
Orofacial granulomatosis is a generic term applied to manifestations of several diseases including sarcoidosis, Crohn's disease, Melkersson-Rosenthal syndrome, cheilitis granulomatosa of Miescher, tuberculosis and foreign-body reactions. What bonds these diseases together is the presence of noncaseating granulomas. A typical clinical manifestation of orofacial granulomatosis is recurrent labial swellings that eventually persist. This article describes 2 cases of OG diagnosed with the aid of immunohistochemical analysis and successfully treated with intralesional steroids.
Assuntos
Glucocorticoides/administração & dosagem , Granulomatose Orofacial/tratamento farmacológico , Granulomatose Orofacial/patologia , Doenças Labiais/tratamento farmacológico , Doenças Labiais/patologia , Triancinolona/administração & dosagem , Adulto , Feminino , Humanos , Imuno-Histoquímica , Injeções IntralesionaisRESUMO
BACKGROUND: Orofacial granulomatosis is a clinical entity presenting with swelling of the facial and/or oral tissues in association with histologic evidence of noncaseating granulomatous inflammation. Labial swelling is the most common finding. Compromise of the gingival and periodontal tissues may occur but has rarely been described in the literature. Our objective was to characterize granulomatous gingivitis in patients with orofacial granulomatosis. OBSERVATIONS: The study included 29 cases of orofacial granulomatosis seen in our clinic between January 1, 1989, and December 31, 2006. Of these 29, 5 had clinical evidence of gingival tumefaction and underwent gingival biopsy. Histologic examination of all the gingival biopsy specimens showed noncaseating granulomas, edema of the superficial lamina propria, and a chronic inflammatory infiltrate consisting predominantly of lymphocytes and multinucleated giant cells. Treatment options included anti-inflammatory therapy associated with periodontal care. Conclusion Gingival tumefaction with histologic evidence of granulomatous inflammation may occur in orofacial granulomatosis and might be more common than reported in the literature.
Assuntos
Gengivite/etiologia , Granulomatose Orofacial/complicações , Adolescente , Adulto , Biópsia , Edema , Feminino , Gengiva/patologia , Humanos , Inflamação , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
Introdução: As doenças granulomatosas são decorrentes de processos imunopatológicos em que há falha na fagocitose de organismos intracelulares. Podem ocasionar úlceras nas mucosas orais, nasais e faríngeas, lesões nas pregas vocais, otorréia e lesões vegetantes orofaríngeas. Objetivo: Descrever as manifestações otorrinolaringológicas mais freqüentes em doenças granulomatosas comuns: hanseníase, paracoccidioidomicose e leishmaniose. Método: Realizou-se estudo retrospectivo dos prontuários de pacientes diagnosticados com as doenças citadas acima, do período de 1º de janeiro de 2005 a 31 de outubro de 2007, no ambulatório de infectologia de um hospital terciário. Resultados: Avaliaram-se 142 pacientes; 93 com diagnóstico de leishmaniose, 39 de paracoccidiodomicose e 10 de hanseníase. Dos 93 casos de leishmaniose, 16 (17,2%) apresentavam comprometimento mucoso, sendo os sinais mais freqüentes a perfuração septal e úlcera em mucosa nasal, ambos com 8 casos. Na paracoccidiodomicose, a lesão mucosa mais freqüente foi a ulceração orofaríngea com 15 casos (38,4%). Conclusão: Sinais e sintomas de cabeça e pescoço são comuns nos pacientes com leishmaniose e paracoccidioidomicose. As manifestações nasais prevalecem na leishmaniose e as orofaríngeas na paracoccidioidomicose.
Introduction: Granulomatous diseases result from immunopathologic processes in which there is a failure in the fagocitosis of intracellular organisms. They can cause oral, nasal and pharyngeal mucosa ulcers, vocal cords lesions, otorrhoea and oropharyngeal vegetant lesions. Objective: Describing the most frequent otorhinolaryngologic manifestations in common granulomatous diseases: hanseniasis, paracoccidioidomycosis, leishmaniasis. Method: A retrospective study has been carried out from records of patients diagnosed with the abovementioned diseases between January 1, 2005 and October 31, 2007 in an infectology ambulatory of a tertiary hospital. Results: 142 patients were evaluated; 93 with leishmaniasis, 39 with paracoccidioidomycosis and 10 with hanseniasis. In 93 cases of leishmaniasis, 16 (17.2%) had mucosal affection, and the most common signs were septum perforation and nasal mucosal ulcers, both with 8 cases. In paracoccidioidomycosis, oropharyngeal ulcer was the most frequent, with 15 cases (38,4%). Conclusion: Head and neck signs and symptoms are common in patients with leishmaniasis and paracoccidioidomycosis. Nasal manifestations prevail in leishmaniasis and oropharyngeal ones in paracoccidioidomycosis.
Assuntos
Humanos , Granulomatose Orofacial/diagnóstico , Leishmaniose/patologia , Otorrinolaringopatias , Paracoccidioidomicose/diagnósticoRESUMO
Some malignant neoplasias induce the appearance of local or systemic manifestations at distant sites, which can act as indicators of their presence in a process named paraneoplastic syndrome. Granulomatous reactions have already been described related to malignancies. This report describes a case of synchronous orofacial granulomatosis and mucoepidermoid carcinoma and discusses the significance of this association.
Assuntos
Carcinoma Mucoepidermoide/complicações , Granulomatose Orofacial/etiologia , Doenças Labiais/etiologia , Neoplasias Bucais/complicações , Síndromes Paraneoplásicas/etiologia , Carcinoma Mucoepidermoide/diagnóstico , Feminino , Seguimentos , Granulomatose Orofacial/diagnóstico , Humanos , Doenças Labiais/diagnóstico , Pessoa de Meia-Idade , Mucosa Bucal/patologia , Neoplasias Bucais/diagnóstico , Síndromes Paraneoplásicas/diagnósticoRESUMO
We report a 25-year-old man with four-year history of weight loss, diarrhea and intermittent epistaxis. Endoscopy and biopsy showed inflammation of the nasal mucosa. Endoscopic and histologic diagnosis of Crohn s disease was made later; the granulomatous nasal lesions responded to sulfasalazine and azathioprine.
Assuntos
Doença de Crohn/complicações , Granulomatose Orofacial/diagnóstico , Septo Nasal/patologia , Adulto , Granulomatose Orofacial/etiologia , Humanos , Perfuração Intestinal/etiologia , Masculino , Mucosa Nasal/patologiaRESUMO
A 7-year-old, otherwise healthy Peruvian boy presented with a 3-month history of an indurated centrofacial plaque. Histologic examination revealed a granuloma containing free-living amebae tentatively identified as Balamuthia mandrillaris. The patient failed to respond to tentative treatment. He was admitted to the intensive care unit 7 months later with neurologic manifestations of granulomatous amebic encephalitis, which proved fatal. The difficulty in diagnosing this rare presentation of cutaneous amebiasis, the challenge of treating the condition, and the morbidity and high mortality associated with cerebral involvement are discussed.